Abcam, ab266749, Human NPC2 (Niemann Pick C2) knockout HEK-293T cell line

Size: 2 x 1000000Cells / vial / 1000000Cells / vial
NPC2 KO cell line available to order. KO validated by Western blot. Free of charge wild type control available. Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp insertion in exon 1. To order both knockout and wild-type control cells: select 2 x 1000000Cells/vial. To order only knockout cells: select 1000000Cells/vial.
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,Western blot,
Mutation description:Knockout achieved by using CRISPR/Cas9, Homozygous: 1 bp insertion in exon 1

Product details:
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute, ERS Genomics Limited and Sigma-Aldrich Co. LLC, and is developed with patented technology. For full details of the licenses and patents please refer to our
limited use license
patent pages

Properties and Storage Information:
Gene name-NPC2, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Western blot, Zygosity-Homozygous, Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--196°C, Appropriate long-term storage conditions--196°C

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
The Niemann Pick C2 protein (NPC2) is a small intracellular cholesterol transport protein weighing approximately 16 kDa. Alternately referred to as "NPC2 protein" or "NPC 293" it binds with lipids and is predominantly expressed in the lysosome. This protein plays a critical role in the intracellular lipid transport process. NPC2 forms part of a family of proteins tasked with moving cholesterol and other related lipids within lysosomal compartments.
Biological function summary
NPC2 protein facilitates the transfer of cholesterol from lysosomes to other parts of the cell. It operates in tandem with its partner protein Niemann Pick C1 (NPC1) to mediate the egress of cholesterol. The NPC2 protein docks to NPC1 within the lysosomal membrane forming an essential complex in lipid transport. This function is pivotal for the maintenance of cellular cholesterol homeostasis influencing various cellular and systemic functions linked to cholesterol metabolism.
Pathways
NPC2 protein participates prominently in the cholesterol efflux pathways. It associates with the NPC1 protein to regulate the movement of cholesterol from the lysosomal membrane to cytoplasmic areas where it can be utilized or stored. This pathway links NPC2 to significant biological processes like the homeostasis of lipoprotein-derived cholesterol influencing the SREBP pathway which governs lipid synthesis and uptake. Such interactions highlight NPC2's involvement in regulating cellular lipid balance.
NPC2 protein dysfunction notably links to Niemann-Pick disease type C a lipid storage disorder. Mutations in the genes encoding NPC2 or NPC1 disrupt cholesterol transportation leading to abnormal lipid accumulation and progressive neurodegeneration. Additionally this protein's dysregulation is indirectly connected to atherosclerosis as such disruptions can result in altered cellular cholesterol management highlighting its interaction with proteins involved in cardiovascular diseases.